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Phenotypes for disease #00044 (FAF (amyloidosis, Finnish type (type V) (FAF)), OMIM:105120)
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Diagnosis/Initial
: initial diagnosis, before molecular testing
Inheritance
: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable
Age/Examination
: age at which the individual was examined.
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
Age/Diagnosis
: age diagnosis was confirmed
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Onset
: Age first symptoms disease appeared in individual:
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Phenotype/Onset
: individual's phenotype at Age/Onset described using HPO
Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Protein
: result from protein staining
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Column type
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Matches
Text
Arg
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space
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Text
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!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
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Text
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Text
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combination
Text
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Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
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Date
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all entries before the year 2020
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Date
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>
Date
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all entries after June, 2020
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Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
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Matches
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all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
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all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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24 entries on 1 page. Showing entries 1 - 24.
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Legend
How to query
Phenotype ID
Diagnosis/Initial
Inheritance
Age/Examination
Diagnosis/Definite
Age/Diagnosis
Age/Onset
Phenotype/Onset
Phenotype details
Protein
Owner
Individual ID
0000017750
-
Isolated (sporadic)
75y
-
-
-
-
see paper; chronic kidney disease, anemia; medical history significant for hypertension, rheumatoid arthritis, gout
-
Johan den Dunnen
00019991
0000017751
-
Familial, autosomal dominant
-
-
-
-
-
see paper
-
Johan den Dunnen
00019992
0000017752
-
Familial, autosomal dominant
-
-
-
-
-
-
-
Johan den Dunnen
00019993
0000017753
-
Unknown
-
-
-
-
-
-
-
Johan den Dunnen
00019994
0000017754
-
Unknown
-
-
-
-
-
-
-
Johan den Dunnen
00019995
0000017755
-
Familial, autosomal dominant
-
-
-
-
-
familial amyloidosis of Finnish type (FAF)
-
Johan den Dunnen
00019996
0000017756
-
Familial, autosomal dominant
-
-
-
-
-
familial amyloidosis of Finnish type (FAF)
-
Johan den Dunnen
00019997
0000017757
-
Familial, autosomal dominant
-
-
-
-
-
familial amyloidosis of Finnish type (FAF)
-
Johan den Dunnen
00019998
0000017758
-
Familial, autosomal dominant
-
-
-
-
-
familial amyloidosis of Finnish type (FAF)
-
Johan den Dunnen
00019999
0000017759
-
Familial, autosomal dominant
-
-
-
-
-
see paper
-
Johan den Dunnen
00020000
0000017760
-
Familial, autosomal dominant
-
-
-
-
-
see paper; familial amyloidosis of Finnish type (FAF)
-
Johan den Dunnen
00020001
0000017761
-
Familial, autosomal dominant
-
-
-
-
-
see paper; early onset and severe familial amyloidosis of Finnish type (FAF)
-
Johan den Dunnen
00020002
0000017762
-
Familial, autosomal dominant
-
-
-
-
-
see paper; father lattice corneal dystrophy, bilateral facial-nerve palsies, amyloid in corneal tissue; daugther lattice corneal dystrophy
-
Johan den Dunnen
00020003
0000017763
-
Familial, autosomal dominant
-
-
-
-
-
see paper
-
Johan den Dunnen
00020004
0000017764
-
Familial, autosomal dominant
-
-
-
-
-
see paper
-
Johan den Dunnen
00020005
0000017765
-
Familial, autosomal dominant
-
-
-
-
-
see paper
-
Johan den Dunnen
00020006
0000017766
-
Familial, autosomal dominant
-
-
-
-
-
see paper
-
Johan den Dunnen
00020007
0000017767
-
Familial, autosomal dominant
-
-
-
-
-
see paper
-
Johan den Dunnen
00020008
0000017768
-
Isolated (sporadic)
-
-
-
-
-
see paper, Finnish type corneal amyloidosis
-
Johan den Dunnen
00020009
0000017769
-
Familial, autosomal dominant
-
-
-
-
-
see paper
-
Johan den Dunnen
00020010
0000017770
-
Familial, autosomal dominant
-
-
-
-
-
see paper
-
Johan den Dunnen
00020011
0000017771
-
Isolated (sporadic)
-
-
-
-
-
see paper
-
Johan den Dunnen
00020012
0000017772
-
Familial, autosomal dominant
-
-
-
-
-
see paper, familial amyloidosis of Finnish type (FAF), severe cardiac conduction alterations
-
Johan den Dunnen
00020013
0000017773
-
Familial, autosomal dominant
-
-
-
-
-
see paper, late onset lattice corneal dystrophy
-
Johan den Dunnen
00020014
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